A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases

Abstract

Thirty-five patients, exclusively girls, from three countries had a uniform and striking progressive encephalopathy. After normal general and psychomotor development up to the age of 7 to 18 months, developmental stagnation occurred, followed by rapid deterioration of higher brain functions. Within one-and-a-half years this deterioration led to severe dementia, autism, loss of purposeful use of the hands, jerky truncal ataxia, and acquired microcephaly. The destructive stage was followed by apparent stability lasting through decades. Additional insidious neurological abnormalities supervened, mainly spastic parapareses, vasomotor disturbances of the lower limbs, and epilepsy. Prior extensive laboratory investigations have not revealed the cause. The condition is similar to a virtually overlooked syndrome described by Rett in the German literature. The exclusive involvement of females, correlated with findings in family data analyses, suggests a dominant mutation on one X chromosome that results in affected girls and nonviable male hemizygous conceptuses.

Eating practices, nutritional status and constipation in patients with Rett syndrome

“…Confirmation of the diagnostic disease and classification of RS were performed by neuropediatricians, based on the criteria modified (28) by HAGBERG et al (7) .…”

“…The onset of the disease occurs between 6 and 18 months of life and stagnation of the neuropsychomotor development characterizes the initial phase of the disease. Other characteristics of RS are: acquired microencephaly, stereotyped movements and loss of purposeful hand use, respiratory problems, epilepsy, sensorial and motor deficits, nutritional deficits and scoliosis (7,21,22,28) .…”

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

“…Individuals with RTT develop typically for the first 6-18 months of life, after which they experience a period of regression, losing speech and deliberate use of the hands. Phenotypic presentation of the syndrome also includes microcephaly, ataxia, epilepsy, breathing difficulties, and stereotyped hand movements [73], and up to 40% of individuals with RTT meet the criteria for autism [74].…”

Early development in Rett syndrome – the benefits and difficulties of a birth cohort approach

“…1–4 The natural history of this disorder follows a four-stage trajectory including a period of regression with subsequent recovery or stabilization. 3,5 Hagberg 5 reported on 35 females characterized inter alia by loss of verbal communicative abilities and purposeful hand use with simultaneously occurring hand stereotypies (hand wringing, washing character). He published his findings under the eponym of the author who first described this symptom-complex some 50 years ago, the Austrian neuropediatrician Andreas Rett.…”